Chromosomal inversion

A clay model showing why heterozygous inversion loops are visible in polytene chromosome preparations
An inversion loop in the A arm of a chromosome from an Axarus species midge

An inversion is a chromosome rearrangement in which a segment of a chromosome is reversed end to end. An inversion occurs when a single chromosome undergoes breakage and rearrangement within itself. Inversions are of two types: paracentric and pericentric.

Paracentric inversions do not include the centromere and both breaks occur in one arm of the chromosome. Pericentric inversions include the centromere and there is a break point in each arm.

Cytogenetic techniques may be able to detect inversions, or inversions may be inferred from genetic analysis. Nevertheless, in most species small inversions go undetected. In insects with polytene chromosomes, for example Drosophila, preparations of larval salivary gland chromosomes allow inversions to be seen when they are heterozygous. This useful characteristic of polytene chromosomes was first advertised by Theophilus Shickel Painter in 1933.[1]

Inversions usually do not cause any abnormalities in carriers as long as the rearrangement is balanced with no extra or missing DNA. However, in individuals which are heterozygous for an inversion, there is an increased production of abnormal chromatids (this occurs when crossing-over occurs within the span of the inversion). This leads to lowered fertility due to production of unbalanced gametes.

The most common inversion seen in humans is on chromosome 9, at inv(9)(p12q13). This inversion is generally considered to have no harmful effects, but there is some suspicion it could lead to an increased risk for miscarriage or infertility for some affected individuals. An example of how inversions can cause disease comes from a spontaneous inversion that occurred within an individual with autism that disrupted the gene CDH8,[2] which has previously been implicated in autism.[3]

An inversion does not involve a loss of genetic information, but simply rearranges the linear gene sequence.

Families that may be carriers of inversions may be offered genetic counseling and genetic testing.[4]

References

  1. ↑ Painter TS (1933). "A new method for the study of chromosome rearrangements and the plotting of chromosome maps". Science 78 (2034): 585–6. doi:10.1126/science.78.2034.585. PMID 17801695.
  2. ↑ Brandler, William M.; Antaki, Danny; Gujral, Madhusudan; Noor, Amina; Rosanio, Gabriel; Chapman, Timothy R.; Barrera, Daniel J.; Lin, Guan Ning; Malhotra, Dheeraj; Watts, Amanda C.; Wong, Lawrence C.; Estabillo, Jasper A.; Gadomski, Therese E.; Hong, Oanh; Fajardo, Karin V. Fuentes; Bhandari, Abhishek; Owen, Renius; Baughn, Michael; Yuan, Jeffrey; Solomon, Terry; Moyzis, Alexandra G.; Maile, Michelle S.; Sanders, Stephan J.; Reiner, Gail E.; Vaux, Keith K.; Strom, Charles M.; Zhang, Kang; Muotri, Alysson R.; Akshoomoff, Natacha; Leal, Suzanne M.; Pierce, Karen; Courchesne, Eric; Iakoucheva, Lilia M.; Corsello, Christina; Sebat, Jonathan (24 March 2016). "Frequency and Complexity of De Novo Structural Mutation in Autism". The American Journal of Human Genetics 98 (4): 1–13. doi:10.1016/j.ajhg.2016.02.018.
  3. ↑ Pagnamenta, A. T.; Khan, H.; Walker, S.; Gerrelli, D.; Wing, K.; Bonaglia, M. C.; Giorda, R.; Berney, T.; Mani, E.; Molteni, M.; Pinto, D.; Le Couteur, A.; Hallmayer, J.; Sutcliffe, J. S.; Szatmari, P.; Paterson, A. D.; Scherer, S. W.; Vieland, V. J.; Monaco, A. P. (23 October 2010). "Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability". Journal of Medical Genetics 48 (1): 48–54. doi:10.1136/jmg.2010.079426.
  4. ↑ Gardner, R.J.M; Sutherland, Grant R.; Shaffer, Lisa G. (2011). "9 Inversions". Chromosome Abnormalities and Genetic Counseling (4th ed.). Oxford University Press. pp. 161–182. ISBN 978-0-19-974915-7.

See also

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